Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 4B1 | | ISO | MTMR2 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 4B1 | | ISO | MTMR2 (Homo sapiens) | 7240710 | | OMIM | | |
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MTMR2 (Sus scrofa - pig) |
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MTMR2 (Homo sapiens - human) |
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Mtmr2 (Mus musculus - house mouse) |
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Mtmr2 (Rattus norvegicus - Norway rat) |
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Mtmr2 (Chinchilla lanigera - long-tailed chinchilla) |
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MTMR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MTMR2 (Canis lupus familiaris - dog) |
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Mtmr2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MTMR2 (Chlorocebus sabaeus - green monkey) |
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Mtmr2 (Heterocephalus glaber - naked mole-rat) |
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Variants in MTMR2
3262 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 7 | 1 | 1 | 3 | 18 | 1 | |||
Low | 3 | 3 | 2 | 2 | 2 | 5 | 2 | 2 | 3 |
Below cutoff |
RefSeq Transcripts | XM_003129797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_003357252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005667262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013979302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013979303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_013979304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021062691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK389414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01059300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000016332 ⟹ ENSSSCP00000015894 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000056313 ⟹ ENSSSCP00000053210 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000065637 ⟹ ENSSSCP00000047553 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000102932 ⟹ ENSSSCP00000078267 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000106456 ⟹ ENSSSCP00000075360 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003129797 ⟹ XP_003129845 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_003357252 ⟹ XP_003357300 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005667262 ⟹ XP_005667319 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013979302 ⟹ XP_013834756 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013979303 ⟹ XP_013834757 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_013979304 ⟹ XP_013834758 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021062691 ⟹ XP_020918350 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_003129845 | (Get FASTA) | NCBI Sequence Viewer |
XP_003357300 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005667319 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013834756 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013834757 | (Get FASTA) | NCBI Sequence Viewer | |
XP_013834758 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020918350 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000015894 | ||
ENSSSCP00000015894.4 | |||
ENSSSCP00000047553 | |||
ENSSSCP00000047553.2 | |||
ENSSSCP00000053210.1 | |||
ENSSSCP00000075360.1 | |||
ENSSSCP00000078267.1 | |||
ENSSSCP00005026509.1 | |||
ENSSSCP00015038747.1 | |||
ENSSSCP00015038916.1 | |||
ENSSSCP00015038949.1 | |||
ENSSSCP00015039020.1 | |||
ENSSSCP00015039105.1 | |||
ENSSSCP00025011279.1 | |||
ENSSSCP00025011292.1 | |||
ENSSSCP00025011307.1 | |||
ENSSSCP00025011317.1 | |||
ENSSSCP00030013265.1 | |||
ENSSSCP00030013298.1 | |||
ENSSSCP00030013304.1 | |||
ENSSSCP00030013315.1 | |||
ENSSSCP00030013327.1 | |||
ENSSSCP00035012800.1 | |||
ENSSSCP00040042544.1 | |||
ENSSSCP00040042622.1 | |||
ENSSSCP00040042717.1 | |||
ENSSSCP00040042786.1 | |||
ENSSSCP00045000440.1 | |||
ENSSSCP00045000448.1 | |||
ENSSSCP00045000463.1 | |||
ENSSSCP00045000467.1 | |||
ENSSSCP00050047546.1 | |||
ENSSSCP00050047553.1 | |||
ENSSSCP00050047583.1 | |||
ENSSSCP00050047596.1 | |||
ENSSSCP00055034643.1 | |||
ENSSSCP00055034767.1 | |||
ENSSSCP00055034887.1 | |||
ENSSSCP00055034972.1 | |||
ENSSSCP00060040333.1 | |||
ENSSSCP00060040369.1 | |||
ENSSSCP00060040383.1 | |||
ENSSSCP00060040402.1 | |||
ENSSSCP00060040415.1 | |||
ENSSSCP00065009908.1 | |||
ENSSSCP00065009909.1 | |||
ENSSSCP00065009912.1 | |||
ENSSSCP00065009914.1 | |||
ENSSSCP00070019480.1 | |||
ENSSSCP00070019483.1 | |||
ENSSSCP00070019505.1 |
RefSeq Acc Id: | XP_003357300 ⟸ XM_003357252 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A287AUM4 (UniProtKB/TrEMBL), A0A4X1TQU0 (UniProtKB/TrEMBL), A0A8W4F955 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005667319 ⟸ XM_005667262 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A4X1TW24 (UniProtKB/TrEMBL), A0A8D2BS55 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_003129845 ⟸ XM_003129797 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1TVN4 (UniProtKB/TrEMBL), F1STI4 (UniProtKB/TrEMBL), A0A8D0JJF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013834758 ⟸ XM_013979304 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8W4F955 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013834756 ⟸ XM_013979302 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A287AUM4 (UniProtKB/TrEMBL), A0A4X1TQU0 (UniProtKB/TrEMBL), A0A8W4F955 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_013834757 ⟸ XM_013979303 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A287AUM4 (UniProtKB/TrEMBL), A0A4X1TQU0 (UniProtKB/TrEMBL), A0A8W4F955 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020918350 ⟸ XM_021062691 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A287AUM4 (UniProtKB/TrEMBL), A0A4X1TQU0 (UniProtKB/TrEMBL), A0A8W4F955 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000015894 ⟸ ENSSSCT00000016332 |
RefSeq Acc Id: | ENSSSCP00000047553 ⟸ ENSSSCT00000065637 |
RefSeq Acc Id: | ENSSSCP00000053210 ⟸ ENSSSCT00000056313 |
RefSeq Acc Id: | ENSSSCP00000078267 ⟸ ENSSSCT00000102932 |
RefSeq Acc Id: | ENSSSCP00000075360 ⟸ ENSSSCT00000106456 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000014970 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005027067 | UniProtKB/TrEMBL | |
ENSSSCG00015070480 | UniProtKB/TrEMBL | |
ENSSSCG00025019566 | UniProtKB/TrEMBL | |
ENSSSCG00030021299 | UniProtKB/TrEMBL | |
ENSSSCG00035024715 | UniProtKB/TrEMBL | |
ENSSSCG00040069841 | UniProtKB/TrEMBL | |
ENSSSCG00045000581 | UniProtKB/TrEMBL | |
ENSSSCG00050078041 | UniProtKB/TrEMBL | |
ENSSSCG00055022161 | UniProtKB/TrEMBL | |
ENSSSCG00060068329 | UniProtKB/TrEMBL | |
ENSSSCG00065018259 | UniProtKB/TrEMBL | |
ENSSSCG00070012076 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000016332 | ENTREZGENE |
ENSSSCT00000016332.4 | UniProtKB/TrEMBL | |
ENSSSCT00000056313.1 | UniProtKB/TrEMBL | |
ENSSSCT00000065637 | ENTREZGENE | |
ENSSSCT00000065637.2 | UniProtKB/TrEMBL | |
ENSSSCT00000102932.1 | UniProtKB/TrEMBL | |
ENSSSCT00000106456.1 | UniProtKB/TrEMBL | |
ENSSSCT00005043243.1 | UniProtKB/TrEMBL | |
ENSSSCT00015094515.1 | UniProtKB/TrEMBL | |
ENSSSCT00015094857.1 | UniProtKB/TrEMBL | |
ENSSSCT00015094922.1 | UniProtKB/TrEMBL | |
ENSSSCT00015095069.1 | UniProtKB/TrEMBL | |
ENSSSCT00015095238.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026607.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026626.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026661.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026688.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029547.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029598.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029608.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029643.1 | UniProtKB/TrEMBL | |
ENSSSCT00030029674.1 | UniProtKB/TrEMBL | |
ENSSSCT00035032517.1 | UniProtKB/TrEMBL | |
ENSSSCT00040095908.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096050.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096223.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096348.1 | UniProtKB/TrEMBL | |
ENSSSCT00045000824.1 | UniProtKB/TrEMBL | |
ENSSSCT00045000839.1 | UniProtKB/TrEMBL | |
ENSSSCT00045000865.1 | UniProtKB/TrEMBL | |
ENSSSCT00045000874.1 | UniProtKB/TrEMBL | |
ENSSSCT00050107510.1 | UniProtKB/TrEMBL | |
ENSSSCT00050107523.1 | UniProtKB/TrEMBL | |
ENSSSCT00050107560.1 | UniProtKB/TrEMBL | |
ENSSSCT00050107582.1 | UniProtKB/TrEMBL | |
ENSSSCT00055043526.1 | UniProtKB/TrEMBL | |
ENSSSCT00055043669.1 | UniProtKB/TrEMBL | |
ENSSSCT00055043808.1 | UniProtKB/TrEMBL | |
ENSSSCT00055043915.1 | UniProtKB/TrEMBL | |
ENSSSCT00060093270.1 | UniProtKB/TrEMBL | |
ENSSSCT00060093358.1 | UniProtKB/TrEMBL | |
ENSSSCT00060093389.1 | UniProtKB/TrEMBL | |
ENSSSCT00060093423.1 | UniProtKB/TrEMBL | |
ENSSSCT00060093446.1 | UniProtKB/TrEMBL | |
ENSSSCT00065024273.1 | UniProtKB/TrEMBL | |
ENSSSCT00065024274.1 | UniProtKB/TrEMBL | |
ENSSSCT00065024277.1 | UniProtKB/TrEMBL | |
ENSSSCT00065024279.1 | UniProtKB/TrEMBL | |
ENSSSCT00070023546.1 | UniProtKB/TrEMBL | |
ENSSSCT00070023550.1 | UniProtKB/TrEMBL | |
ENSSSCT00070023573.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
3.90.190.10 | UniProtKB/TrEMBL | |
InterPro | GRAM | UniProtKB/TrEMBL |
Myotubularin-like_Pase_dom | UniProtKB/TrEMBL | |
Myotubularin_fam | UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/TrEMBL | |
Prot-tyrosine_phosphatase-like | UniProtKB/TrEMBL | |
Tyr_Pase_AS | UniProtKB/TrEMBL | |
Tyr_Pase_cat | UniProtKB/TrEMBL | |
TYR_PHOSPHATASE_dom | UniProtKB/TrEMBL | |
KEGG Report | ssc:100518140 | UniProtKB/TrEMBL |
NCBI Gene | MTMR2 | ENTREZGENE |
PANTHER | MYOTUBULARIN-RELATED PROTEIN 2 | UniProtKB/TrEMBL |
PTHR10807 | UniProtKB/TrEMBL | |
Pfam | GRAM | UniProtKB/TrEMBL |
Myotub-related | UniProtKB/TrEMBL | |
PROSITE | PPASE_MYOTUBULARIN | UniProtKB/TrEMBL |
TYR_PHOSPHATASE_1 | UniProtKB/TrEMBL | |
TYR_PHOSPHATASE_2 | UniProtKB/TrEMBL | |
SMART | GRAM | UniProtKB/TrEMBL |
PTPc_motif | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
SSF52799 | UniProtKB/TrEMBL | |
UniProt | A0A287AUM4 | ENTREZGENE, UniProtKB/TrEMBL |
A0A287BAT7_PIG | UniProtKB/TrEMBL | |
A0A4X1TQU0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1TVN4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1TW24 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0JJF6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1FWF5_PIG | UniProtKB/TrEMBL | |
A0A8D2BS55 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8W4F955 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8W4FG24_PIG | UniProtKB/TrEMBL | |
F1STI4 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:90460 | ENTREZGENE |